Variant report

Variant	nsv398306
Chromosome Location	chr8:115760003-115765673
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 196 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:196 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200679473	chr8:115760006-115760007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs115955444	chr8:115760029-115760030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs558296330	chr8:115760035-115760036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs540393025	chr8:115760041-115760042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs149278653	chr8:115760083-115760084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs1349940	chr8:115760100-115760101	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs562041220	chr8:115760113-115760114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs374157543	chr8:115760153-115760154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs78109805	chr8:115760158-115760159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs182764224	chr8:115760182-115760183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs148446431	chr8:115760242-115760243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs549198525	chr8:115760341-115760342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568706609	chr8:115760384-115760385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs142628698	chr8:115760402-115760403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564336547	chr8:115760480-115760481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs6989633	chr8:115760498-115760499	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs185237309	chr8:115760553-115760554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs78531739	chr8:115760566-115760567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568321052	chr8:115760567-115760568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529308761	chr8:115760570-115760571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533326120	chr8:115760610-115760611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550968096	chr8:115760689-115760690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569387501	chr8:115760743-115760744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs28651796	chr8:115760749-115760750	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs551223703	chr8:115760763-115760764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs28483950	chr8:115760779-115760780	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs567100587	chr8:115760832-115760833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12677659	chr8:115760833-115760834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs534119462	chr8:115760909-115760910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs55865081	chr8:115760973-115760974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs145966203	chr8:115760998-115760999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs74544831	chr8:115761032-115761033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs553469648	chr8:115761051-115761052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573947449	chr8:115761075-115761076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs541445215	chr8:115761099-115761100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201405440	chr8:115761135-115761136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs556575002	chr8:115761253-115761254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112657476	chr8:115761259-115761260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs116190715	chr8:115761382-115761383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191167619	chr8:115761513-115761514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564019748	chr8:115761516-115761517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs199851083	chr8:115761594-115761595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs150576760	chr8:115761627-115761628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs10095591	chr8:115761638-115761639	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs561986356	chr8:115761730-115761731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs529170035	chr8:115761824-115761825	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs550876593	chr8:115761850-115761851	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs569301057	chr8:115761860-115761861	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs533169369	chr8:115761863-115761864	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs551891665	chr8:115761867-115761868	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21364760	CNVD
Neuroticism	17667963	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164919	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:115758800-115767200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr8:115761800-115762000	Enhancers	iPS-15b Cell Line	embryonic stem cell

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